Varaico: Literature-Extracted Genetic Variants

Gene:TMEM216
Variant:p.M87V

TMEM216

97 papers

RefSeq Summary

This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorena...

Pfam Domains

Transmemb_17aa 22–128UCSCPredicted membrane protein

Gene Aliases

HGNC Name

transmembrane protein 216

HGNC Previous Symbols

CORS2; MKS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001173990.3
p.M87V
c.259A>G
Surrounding Variants
3 papers
NM_001173990.3
p.P88P
c.264G>A
1 paper
NM_001173990.3
p.R85Q
c.254G>A
1 paper
NM_001173990.3
p.R85G
c.253C>G
7 papers
NM_001173990.3
p.R85*
c.253C>T
1 paper
NM_001173990.3
p.L89F
c.265C>T
1 paper
NM_001330285.2
p.Q23Q
c.69G>A
1 paper
NM_001330285.2
p.Q23H
c.69G>C
1 paper
NM_001330285.2
p.Q23H
c.69G>T
1 paper
NM_001173990.3
p.T78fs
c.232_233fs
3 papers
NM_001173990.3
p.G77A
c.230G>C
4 papers
NM_001173990.3
p.F97I
c.289T>A
1 paper
NM_001173990.3
p.Y105F
c.314A>T
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